Ontology highlight
ABSTRACT:
SUBMITTER: Feldman D
PROVIDER: S-EPMC4015455 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Feldman David D J Malloy Peter P
BoneKEy reports 20140305
Heterogeneous loss of function mutations in the vitamin D receptor (VDR) interfere with vitamin D signaling and cause hereditary vitamin D-resistant rickets (HVDRR). HVDRR is characterized by hypocalcemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is often associated with consanguinity. Affected children may also exhibit alopecia of the scalp and total body. The children usually fail to respond to treatment with calcitriol; in fact, their endogenous levels are o ...[more]